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Protein

Cell division control protein 6 homolog

Gene

CDC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi202 – 209ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • kinase binding Source: BHF-UCL
  • nucleotide binding Source: ProtInc

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • cellular response to angiotensin Source: Ensembl
  • cellular response to vasopressin Source: Ensembl
  • DNA replication Source: Reactome
  • DNA replication checkpoint Source: ProtInc
  • DNA replication initiation Source: InterPro
  • G1/S transition of mitotic cell cycle Source: Reactome
  • mitotic nuclear division Source: UniProtKB-KW
  • negative regulation of cell proliferation Source: ProtInc
  • negative regulation of DNA replication Source: ProtInc
  • positive regulation of chromosome segregation Source: BHF-UCL
  • positive regulation of cyclin-dependent protein serine/threonine kinase activity Source: Ensembl
  • positive regulation of cytokinesis Source: BHF-UCL
  • positive regulation of fibroblast proliferation Source: Ensembl
  • regulation of cyclin-dependent protein serine/threonine kinase activity Source: ProtInc
  • regulation of mitotic metaphase/anaphase transition Source: BHF-UCL
  • regulation of transcription involved in G1/S transition of mitotic cell cycle Source: Reactome
  • traversing start control point of mitotic cell cycle Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, DNA replication, Mitosis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000094804-MONOMER.
ReactomeiR-HSA-113510. E2F mediated regulation of DNA replication.
R-HSA-1538133. G0 and Early G1.
R-HSA-176187. Activation of ATR in response to replication stress.
R-HSA-68689. CDC6 association with the ORC:origin complex.
R-HSA-68827. CDT1 association with the CDC6:ORC:origin complex.
R-HSA-68867. Assembly of the pre-replicative complex.
R-HSA-68949. Orc1 removal from chromatin.
R-HSA-68962. Activation of the pre-replicative complex.
R-HSA-69017. CDK-mediated phosphorylation and removal of Cdc6.
R-HSA-69205. G1/S-Specific Transcription.
R-HSA-69298. Association of licensing factors with the pre-replicative complex.
R-HSA-69300. Removal of licensing factors from origins.
SignaLinkiQ99741.
SIGNORiQ99741.

Names & Taxonomyi

Protein namesi
Recommended name:
Cell division control protein 6 homolog
Alternative name(s):
CDC6-related protein
Cdc18-related protein
Short name:
HsCdc18
p62(cdc6)
Short name:
HsCDC6
Gene namesi
Name:CDC6
Synonyms:CDC18L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:1744. CDC6.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • Golgi apparatus Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: BHF-UCL
  • spindle midzone Source: BHF-UCL
  • spindle pole Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Meier-Gorlin syndrome 5 (MGORS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.
See also OMIM:613805
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065493323T → R in MGORS5. 1 PublicationCorresponds to variant rs387906842dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi990.
MalaCardsiCDC6.
MIMi613805. phenotype.
OpenTargetsiENSG00000094804.
Orphaneti2554. Ear-patella-short stature syndrome.
PharmGKBiPA26271.

Chemistry databases

ChEMBLiCHEMBL2311228.

Polymorphism and mutation databases

BioMutaiCDC6.
DMDMi50400620.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001509791 – 560Cell division control protein 6 homologAdd BLAST560

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei45PhosphoserineCombined sources1
Modified residuei54PhosphoserineCombined sources1
Modified residuei67PhosphothreonineBy similarity1
Modified residuei74PhosphoserineBy similarity1
Modified residuei106PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei419PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99741.
MaxQBiQ99741.
PaxDbiQ99741.
PeptideAtlasiQ99741.
PRIDEiQ99741.

PTM databases

iPTMnetiQ99741.
PhosphoSitePlusiQ99741.

Miscellaneous databases

PMAP-CutDBQ99741.

Expressioni

Gene expression databases

BgeeiENSG00000094804.
CleanExiHS_CDC6.
ExpressionAtlasiQ99741. baseline and differential.
GenevisibleiQ99741. HS.

Organism-specific databases

HPAiHPA050114.
HPA054703.

Interactioni

Subunit structurei

Interacts with PCNA, ORC1L, cyclin-CDK and HUWE1. Interacts with ANKRD17.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CDKN1AP389362EBI-374862,EBI-375077
CDT1Q9H2113EBI-374862,EBI-456953
MCM7P339932EBI-374862,EBI-355924

GO - Molecular functioni

  • kinase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107426. 64 interactors.
DIPiDIP-28154N.
IntActiQ99741. 23 interactors.
MINTiMINT-1201847.
STRINGi9606.ENSP00000209728.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CCHX-ray1.70E/F89-100[»]
2CCIX-ray2.70F/I71-100[»]
4I5LX-ray2.43B/E70-90[»]
4I5NX-ray2.80B/E70-90[»]
ProteinModelPortaliQ99741.
SMRiQ99741.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99741.

Family & Domainsi

Sequence similaritiesi

Belongs to the CDC6/cdc18 family.Curated

Phylogenomic databases

eggNOGiKOG2227. Eukaryota.
COG1474. LUCA.
GeneTreeiENSGT00530000063498.
HOGENOMiHOG000045316.
HOVERGENiHBG050860.
InParanoidiQ99741.
KOiK02213.
OMAiTPHLPPC.
OrthoDBiEOG091G0AXO.
PhylomeDBiQ99741.
TreeFamiTF101051.

Family and domain databases

CDDicd08768. Cdc6_C. 1 hit.
Gene3Di1.10.10.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR016314. Cdc6/18.
IPR015163. Cdc6_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF13401. AAA_22. 1 hit.
PF09079. Cdc6_C. 1 hit.
[Graphical view]
PIRSFiPIRSF001767. Cdc6. 1 hit.
SMARTiSM00382. AAA. 1 hit.
SM01074. Cdc6_C. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 1 hit.

Sequencei

Sequence statusi: Complete.

Q99741-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPQTRSQAQA TISFPKRKLS RALNKAKNSS DAKLEPTNVQ TVTCSPRVKA
60 70 80 90 100
LPLSPRKRLG DDNLCNTPHL PPCSPPKQGK KENGPPHSHT LKGRRLVFDN
110 120 130 140 150
QLTIKSPSKR ELAKVHQNKI LSSVRKSQEI TTNSEQRCPL KKESACVRLF
160 170 180 190 200
KQEGTCYQQA KLVLNTAVPD RLPAREREMD VIRNFLREHI CGKKAGSLYL
210 220 230 240 250
SGAPGTGKTA CLSRILQDLK KELKGFKTIM LNCMSLRTAQ AVFPAIAQEI
260 270 280 290 300
CQEEVSRPAG KDMMRKLEKH MTAEKGPMIV LVLDEMDQLD SKGQDVLYTL
310 320 330 340 350
FEWPWLSNSH LVLIGIANTL DLTDRILPRL QAREKCKPQL LNFPPYTRNQ
360 370 380 390 400
IVTILQDRLN QVSRDQVLDN AAVQFCARKV SAVSGDVRKA LDVCRRAIEI
410 420 430 440 450
VESDVKSQTI LKPLSECKSP SEPLIPKRVG LIHISQVISE VDGNRMTLSQ
460 470 480 490 500
EGAQDSFPLQ QKILVCSLML LIRQLKIKEV TLGKLYEAYS KVCRKQQVAA
510 520 530 540 550
VDQSECLSLS GLLEARGILG LKRNKETRLT KVFFKIEEKE IEHALKDKAL
560
IGNILATGLP
Length:560
Mass (Da):62,720
Last modified:May 1, 1997 - v1
Checksum:i3ED7DE4AF80CB017
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019349238T → A.1 PublicationCorresponds to variant rs4135010dbSNPEnsembl.1
Natural variantiVAR_019350295D → N.1 PublicationCorresponds to variant rs4135012dbSNPEnsembl.1
Natural variantiVAR_019351299T → M.1 PublicationCorresponds to variant rs4135013dbSNPEnsembl.1
Natural variantiVAR_065493323T → R in MGORS5. 1 PublicationCorresponds to variant rs387906842dbSNPEnsembl.1
Natural variantiVAR_019352378R → H.1 PublicationCorresponds to variant rs4135016dbSNPEnsembl.1
Natural variantiVAR_019353441V → I.2 PublicationsCorresponds to variant rs13706dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U77949 mRNA. Translation: AAB38317.1.
AF022109 mRNA. Translation: AAC52071.1.
AY150310 Genomic DNA. Translation: AAN10296.1.
BC025232 mRNA. Translation: AAH25232.1.
CCDSiCCDS11365.1.
RefSeqiNP_001245.1. NM_001254.3.
UniGeneiHs.405958.

Genome annotation databases

EnsembliENST00000209728; ENSP00000209728; ENSG00000094804.
GeneIDi990.
KEGGihsa:990.
UCSCiuc002huj.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U77949 mRNA. Translation: AAB38317.1.
AF022109 mRNA. Translation: AAC52071.1.
AY150310 Genomic DNA. Translation: AAN10296.1.
BC025232 mRNA. Translation: AAH25232.1.
CCDSiCCDS11365.1.
RefSeqiNP_001245.1. NM_001254.3.
UniGeneiHs.405958.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CCHX-ray1.70E/F89-100[»]
2CCIX-ray2.70F/I71-100[»]
4I5LX-ray2.43B/E70-90[»]
4I5NX-ray2.80B/E70-90[»]
ProteinModelPortaliQ99741.
SMRiQ99741.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107426. 64 interactors.
DIPiDIP-28154N.
IntActiQ99741. 23 interactors.
MINTiMINT-1201847.
STRINGi9606.ENSP00000209728.

Chemistry databases

ChEMBLiCHEMBL2311228.

PTM databases

iPTMnetiQ99741.
PhosphoSitePlusiQ99741.

Polymorphism and mutation databases

BioMutaiCDC6.
DMDMi50400620.

Proteomic databases

EPDiQ99741.
MaxQBiQ99741.
PaxDbiQ99741.
PeptideAtlasiQ99741.
PRIDEiQ99741.

Protocols and materials databases

DNASUi990.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000209728; ENSP00000209728; ENSG00000094804.
GeneIDi990.
KEGGihsa:990.
UCSCiuc002huj.2. human.

Organism-specific databases

CTDi990.
DisGeNETi990.
GeneCardsiCDC6.
HGNCiHGNC:1744. CDC6.
HPAiHPA050114.
HPA054703.
MalaCardsiCDC6.
MIMi602627. gene.
613805. phenotype.
neXtProtiNX_Q99741.
OpenTargetsiENSG00000094804.
Orphaneti2554. Ear-patella-short stature syndrome.
PharmGKBiPA26271.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2227. Eukaryota.
COG1474. LUCA.
GeneTreeiENSGT00530000063498.
HOGENOMiHOG000045316.
HOVERGENiHBG050860.
InParanoidiQ99741.
KOiK02213.
OMAiTPHLPPC.
OrthoDBiEOG091G0AXO.
PhylomeDBiQ99741.
TreeFamiTF101051.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000094804-MONOMER.
ReactomeiR-HSA-113510. E2F mediated regulation of DNA replication.
R-HSA-1538133. G0 and Early G1.
R-HSA-176187. Activation of ATR in response to replication stress.
R-HSA-68689. CDC6 association with the ORC:origin complex.
R-HSA-68827. CDT1 association with the CDC6:ORC:origin complex.
R-HSA-68867. Assembly of the pre-replicative complex.
R-HSA-68949. Orc1 removal from chromatin.
R-HSA-68962. Activation of the pre-replicative complex.
R-HSA-69017. CDK-mediated phosphorylation and removal of Cdc6.
R-HSA-69205. G1/S-Specific Transcription.
R-HSA-69298. Association of licensing factors with the pre-replicative complex.
R-HSA-69300. Removal of licensing factors from origins.
SignaLinkiQ99741.
SIGNORiQ99741.

Miscellaneous databases

ChiTaRSiCDC6. human.
EvolutionaryTraceiQ99741.
GeneWikiiCDC6.
GenomeRNAii990.
PMAP-CutDBQ99741.
PROiQ99741.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000094804.
CleanExiHS_CDC6.
ExpressionAtlasiQ99741. baseline and differential.
GenevisibleiQ99741. HS.

Family and domain databases

CDDicd08768. Cdc6_C. 1 hit.
Gene3Di1.10.10.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR016314. Cdc6/18.
IPR015163. Cdc6_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF13401. AAA_22. 1 hit.
PF09079. Cdc6_C. 1 hit.
[Graphical view]
PIRSFiPIRSF001767. Cdc6. 1 hit.
SMARTiSM00382. AAA. 1 hit.
SM01074. Cdc6_C. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCDC6_HUMAN
AccessioniPrimary (citable) accession number: Q99741
Secondary accession number(s): Q8TB30
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 1, 1997
Last modified: November 30, 2016
This is version 155 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.